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A Rare Cytogenetic Variant of Monosomy 18P Syndrome As a Consequence of Whole-Arm Translocation Between Chromosomes 13 and 18 Pubmed



Safavi M1 ; Haghi Ashtiani MT1 ; Badv RS2 ; Azariyam A1 ; Vasei M1
Authors
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Authors Affiliations
  1. 1. Molecular Pathology and Cytogenetics Division, Pathology Department, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran
  2. 2. Pediatric Neurology Department, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran

Source: Archives of Iranian medicine Published:2019


Abstract

Monosomy 18p syndrome is one of the prototypical examples of autosomal terminal deletions. This deletion can be the consequence of de novo deletions, malsegregation of a balanced parental translocation, cryptic subtelomeric deletions or ring chromosome 18. The present case is a rare cytogenetic variant of monosomy 18 as a consequence of whole-arm translocation between chromosomes 13 and 18 which has been reported only three times previously. © 2019 The Author(s). This is an open-access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.